Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada
| Autor: | Marlis L. Schroeder, Paul Van Caeseele, Cheryl R. Greenberg, Olga Jilkina, Tamar S. Rubin, Luvinia Kwan, J. Robert Thompson, Andrew Dick, Teresa Zelinski |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Population Population based Biology SCID Article 03 medical and health sciences Nucleic acid thermodynamics Immunology and Microbiology (miscellaneous) Genotype medicine education TREC Severe combined immunodeficiency education.field_of_study Newborn screening newborn screening Incidence (epidemiology) lcsh:RJ1-570 Obstetrics and Gynecology lcsh:Pediatrics medicine.disease Virology 030104 developmental biology Pediatrics Perinatology and Child Health National average |
| Zdroj: | International Journal of Neonatal Screening Volume 4 Issue 2 International Journal of Neonatal Screening, Vol 4, Iss 2, p 19 (2018) |
| ISSN: | 2409-515X |
| DOI: | 10.3390/ijns4020019 |
| Popis: | The incidence of Severe Combined Immunodeficiency (SCID) in Manitoba, (1/15,000), is at least three to four times higher than the national average and that reported from other jurisdictions. It is overrepresented in two population groups: Mennonites (ZAP70 founder mutation) and First Nations of Northern Cree ancestry (IKBKB founder mutation). We have previously demonstrated that in these two populations the most widely utilized T-cell receptor excision circle (TREC) assay is an ineffective newborn screening test to detect SCID as these patients have normal numbers of mature T-cells. We have developed a semi-automated, closed tube, high resolution DNA melting procedure to simultaneously genotype both of these mutations from the same newborn blood spot DNA extract used for the TREC assay. Parallel analysis of all newborn screening specimens utilizing both TREC analysis and the high-resolution DNA procedure should provide as complete ascertainment as possible of SCID in the Manitoba population. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|